Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage.
We describe a women of short stature but of normal intelligence with 10% trisomy 18 mosaicism. Minor dysmorphic signs including facial asymmetries and a slight length difference of extremities were not suggestive of a chromosomal abnormality.
Gersdorf
E
E
Institut für Medizinische Biologie und Genetik der Universität, Innsbruck, Austria.
Utermann
B
B
Utermann
G
G
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D012307:Risk Factors; D014314:Trisomy